Developmental Assessment and Support of Infants with Spinal Muscular Atrophy (SMA): A Literature Review

Ayşıl Seda Togur; Aysel Köksal Akyol

Developmental Assessment and Support of Infants with Spinal Muscular Atrophy (SMA): A Literature Review

Abstract

Development is fundamentally a multidimensional and dynamic process characterized by continuous reciprocal interactions. Within this framework, a risk or delay manifesting in one specific developmental domain is inherently expected to exert a collateral influence on other areas. Consequently, the necessity for systematic assessment and longitudinal monitoring arises even for infants following a typical developmental trajectory. Such early evaluations are of paramount importance for the timely identification of potential risks, ensuring that interventions can be implemented before developmental gaps widen. This significance is further intensified in the presence of chronic illnesses, such as Spinal Muscular Atrophy (SMA), which fundamentally place a child’s overall development at risk. SMA is an autosomal recessive, hereditary, and neurodegenerative genetic disorder characterized by the progressive loss of motor neurons in the spinal cord, resulting in debilitating muscle weakness and atrophy. While literature distinguishes five distinct types based on clinical severity, the emergence of innovative pharmacological treatments is significantly improving the life expectancy of these patients. Historically, research regarding SMA has predominantly concentrated on prognosis, epidemiology, and motor skill improvements. However, the extended lifespan of infants has highlighted an urgent need for supporting their holistic development. Despite this, empirical research addressing developmental domains beyond motor functions remains remarkably limited. Therefore, this review aims to present current research concerning the cognitive, linguistic, socio-emotional, and motor development of infants with SMA, seeking to enhance professional awareness and provide a framework for future multifaceted studies.

Keywords

References

Anderton, R. S., & Mastaglia, F. L. (2015). Advances and challenges in developing a therapy for spinal muscular atrophy. Expert Review of Neurotherapeutics, 15(8), 895–908. https://doi.org/10.1586/14737175.2015.1059438
Angilletta, I., Ferrante, R., Giansante, R., Lombardi, L., Babore, A., Dell’Elice, A., Alessandrelli, E., Notarangelo, S., Ranaudo, M., Palmarini, C., De Laurenzi, V., Stuppia, L., & Rossi, C. (2023). Spinal Muscular Atrophy: An evolving scenario through new perspectives in diagnosis and advances in therapies. International Journal of Molecular Sciences, 24(19), Article 14873. https://doi.org/10.3390/ijms241914873
Aragon-Gawinska, K., Mouraux, C., Dangouloff, T., & Servais, L. (2023). Spinal muscular atrophy treatment in patients identified by newborn screening—A systematic review. Genes, 14(7), Article 1377. https://doi.org/10.3390/genes14071377
Arnold, W. D., & Flanigan, K. M. (2012). A practical approach to molecular diagnostic testing in neuromuscular diseases. Physical Medicine and Rehabilitation Clinics of North America, 23(3), 589–608. https://doi.org/10.1016/j.pmr.2012.06.002
Arnold, W. D., Kassar, D., & Kissel, J. T. (2015). Spinal muscular atrophy: Diagnosis and management in a new therapeutic era. Muscle & Nerve, 51(2), 157–167. https://doi.org/10.1002/mus.24497
Ball, L. J., Chavez, S., Perez, G., Bharucha-Goebel, D., Smart, K., Kundrat, K., Carruthers, L., Brady, C., Leach, M., & Evans, S. (2021). Communication skills among children with spinal muscular atrophy type 1: A parent survey. Assistive Technology, 33(1), 38–45. https://doi.org/10.1080/10400435.2019.1579301
Balaji, L., Kariyawasam, D. S. T., Herbert, K., Sampaio, H. A., Cairns, A. G., McGill, B. C., Kelada, L., Woolfenden, S., Briggs, N., & Farrar, M. (2025). Neurodevelopmental screening in children with early-onset spinal muscular atrophy in the treatment era: a strengths-based cohort study. Brain Communications, 7(1), fcaf272. https://doi.org/10.1093/braincomms/fcaf272
Barja, S., Muñoz, C., Cancino, N., Núnez, A., Ubilla, M., & Sylleros, R. (2013). Audiovisual stimulation in children with severe motor limitation: Does it improve their quality of life? Revista de Neurología, 57(3), 103–111. https://doi.org/10.33734/rn.5703.2013038

Bebko, J. M., Burke, L., Craven, J., & Sarlo, N. (1992). The importance of motor activity in sensorimotor development: A perspective from children with physical handicap. Human Development, 35(4), 226–240. https://doi.org/10.1159/000277123
Beukelman, D. R., Ball, L. J., & Fager, S. (2008). An AAC personnel framework: Adults with acquired complex communication needs. Augmentative and Alternative Communication, 24(3), 255–267. https://doi.org/10.1080/07434610802371904
Billard, C., Gillet, P., Signoret, J. L., Uicaut, E., Bertrand, P., & Fardeau, M. (1992). Cognitive functions in Duchenne muscular dystrophy: A reappraisal and comparison with spinal muscular atrophy. Neuromuscular Disorders, 2(5-6), 371–378. https://doi.org/10.1016/0960-8966(92)90011-i
Bitetti, I., Manna, M., Stella, R., & Varone, A. (2024). Motor and neurocognitive profiles of children with symptomatic spinal muscular atrophy type 1 with two copies of SMN2 before and after treatment: A longitudinal observational study. Frontiers in Neurology, 15, Article 1326528. https://doi.org/10.3389/fneur.2024.1326528
Boursange, S., Araneda, M., Stalens, C., Desguerre, I., Barnerias, C., Nougues, M. C., Isapof, A., Quijano-Roy, S., Blu Genestine, N., Ouillade, L., Martinez Jalilie, M., Castiglioni, C., Boespflug-Tanguy, O., & Gargiulo, M. (2022). Parents' dilemma: A therapeutic decision for children with spinal muscular atrophy (SMA) type 1. Frontiers in Pediatrics, 10, Article 1062390. https://doi.org/10.3389/fped.2022.1062390
Brandt, M., Johannsen, L., Inhestern, L., & Bergelt, C. (2022). Parents as informal caregivers of children and adolescents with spinal muscular atrophy: a systematic review of quantitative and qualitative data on the psychosocial situation, caregiver burden, and family needs. Orphanet Journal of Rare Diseases, 17(1), 240. https://doi.org/10.1186/s13023-022-02407-5
Brusa, C., Buchignani, B., Cutrì, C., Coratti, G., Clark, E., Johnson, E., Cornell, N., Scoto, M., Pane, M., Mercuri, E., Muntoni, F., & Baranello, G. (2025). Expressive language and social communication abilities in children with spinal muscular atrophy type 1. Developmental Medicine & Child Neurology. Advance online publication. https://doi.org/10.1111/dmcn.16461
Buchignani, B., Coratti, G., Cutrì, C., Scattoni, M., Pane, M., Palermo, C., Leone, D., De Sanctis, R., Stanca, G., Antonaci, L., Cutrona, C., Pera, M., Brogna, C., Cristofani, P., Fulceri, F., Baranello, G., & Mercuri, E. (2025). Neurodevelopmental and mental disorders in children with type I and presymptomatic spinal muscular atrophy. Scientific Reports, 15(1), 12484. https://doi.org/10.1038/s41598-025-12484-8
Bulut, N., Yardimci, B. N., Ayvat, E., Aran, O. T., Yilmaz, Ö., & Karaduman, A. (2019). The effect of two different aerobic training modalities in a child with spinal muscular atrophy type II: A case report. Journal of Exercise Rehabilitation, 15(2), 322–326. https://doi.org/10.12965/jer.1938064.032
Carré, A., & Empe, C. (2016). Review of spinal muscular atrophy (SMA) for prenatal and pediatric genetic counselors. Journal of Genetic Counseling, 25(1), 32–43. https://doi.org/10.1007/s10897-015-9883-y
Chabrol, B., & Desguerre, I. (2020). Ethical aspects in the care of a child with infantile spinal muscular atrophy (SMA). Archives de Pédiatrie, 27(7S), 7S50–7S53. https://doi.org/10.1016/S0929-693X(20)30278-5
Chen, X., Sanchis-Juan, A., French, C. E., et al. (2020). Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data. Genetics in Medicine, 22(5), 945–953. https://doi.org/10.1038/s41436-020-0754-0
Chiriboga, C. A., Swoboda, K. J., Darras, B. T., Iannaccone, S. T., Montes, J., De Vivo, D. C., & Bishop, K. M. (2016). Results from a phase 1 study of nusinersen (ISIS-SMNRx) in children with spinal muscular atrophy. Neurology, 86(10), 890–897. https://doi.org/10.1212/WNL.0000000000002445
Ciarleglio, L. J., Bennett, R. L., Williamson, J., Mandell, J. B., & Marks, J. H. (2003). Genetic counseling throughout the life cycle. Journal of Clinical Investigation, 112(9), 1280–1286. https://doi.org/10.1172/JCI20337
Coello-Villalón, M., Díaz-López, C., López-Muñoz, P., Romay-Barrero, H., Pacheco-Da-Costa, S., Plasencia-Robledo, M., Longo, E., & Palomo-Carrión, R. (2025). Families' perceptions of powered mobility for participation in children with spinal muscular atrophy type 1: A photovoice study. Health Expectations, 28(1), e70278. https://doi.org/10.1111/hex.70278
Dabbous, O., Maru, B., Jansen, J. P., et al. (2019). Survival, motor function, and motor milestones: Comparison of AVXS-101 relative to Nusinersen for the treatment of infants with spinal muscular atrophy type 1. Advances in Therapy, 36(5), 1164–1176. https://doi.org/10.1007/s12325-019-00923-8
Dangouloff, T., & Servais, L. (2019). Clinical evidence supporting early treatment of patients with spinal muscular atrophy: Current perspectives. Therapeutics and Clinical Risk Management, 15, 1153–1161. https://doi.org/10.2147/TCRM.S172291
Dangouloff, T., Vrščaj, E., Servais, L., et al. (2021). Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go. Neuromuscular Disorders, 31(7), 574–582. https://doi.org/10.1016/j.nmd.2021.03.007
Darbà, J. (2020). Management and current status of spinal muscular atrophy: A retrospective multicentre claims database analysis. Orphanet Journal of Rare Diseases, 15, Article 8. https://doi.org/10.1186/s13023-019-1282-3
Darke, J., Bushby, K., Le Couteur, A., & McConachie, H. (2006). Survey of behaviour problems in children with neuromuscular diseases. European Journal of Paediatric Neurology, 10(3), 129–134. https://doi.org/10.1016/j.ejpn.2006.04.004
Darras, B. T. (2015). Spinal muscular atrophies. Pediatric Clinics of North America, 62(3), 743–766. https://doi.org/10.1016/j.pcl.2015.03.010
Darras, B. T., Masson, R., Mazurkiewicz-Bełdzińska, M., Rose, K., Xiong, H., Zanoteli, E., Baranello, G., Bruno, C., Vlodavets, D., Wang, Y., El-Khairi, M., Gerber, M., Gorni, K., Khwaja, O., Kletzl, H., Scalco, R. S., Fontoura, P., & Servais, L. (2021). Risdiplam-treated infants with type 1 spinal muscular atrophy versus historical controls. New England Journal of Medicine, 385(5), 427–435. https://doi.org/10.1056/NEJMoa2102047
Day, J. W., Howell, K., Place, A., Long, K., Rossello, J., Kertesz, N., & Nomikos, G. (2022). Advances and limitations for the treatment of spinal muscular atrophy. BMC Pediatrics, 22(1), Article 632. https://doi.org/10.1186/s12887-022-03709-x
De Sanctis, R., Coratti, G., Pasternak, A., Montes, J., Pane, M., Mazzone, E. S., Young, S. D., Salazar, R., Quigley, J., Pera, M. C., Antonaci, L., Lapenta, L., Glanzman, A. M., Tiziano, D., Muntoni, F., Darras, B. T., De Vivo, D. C., Finkel, R., & Mercuri, E. (2016). Developmental milestones in type I spinal muscular atrophy. Neuromuscular Disorders, 26(11), 754–761. https://doi.org/10.1016/j.nmd.2016.08.014
Dubowitz, V. (1995). Muscle disorders in childhood (2nd ed.). W. B. Saunders.
Duffy, J. R. (2013). Motor speech disorders: Substrates, differential diagnosis, and management (3rd ed.). Elsevier Mosby.
Dunaway, S., Montes, J., O'Hagen, J., Sproule, D. M., De Vivo, D. C., & Kaufmann, P. (2013). Independent mobility after early introduction of a power wheelchair in spinal muscular atrophy. Journal of Child Neurology, 28(5), 576–582. https://doi.org/10.1177/0883073812449124
Ertem, İ. Ö., Doğan, D. G., Gök, C. G., Kızılateş, S. U., Çalışkan, A., Atay, G., et al. (2008). A guide for monitoring child development in low- and middle-income countries. Pediatrics, 121(3), e581–e589. https://doi.org/10.1542/peds.2007-1771
Evkaya-Acar, A., Karadağ Saygı, E., İmamoğlu, S., Öztürk, G., Ünver, O., Ergenekon, P., Gökdemir, Y., & Özel, G. (2021). The burden of primary caregivers of spinal muscular atrophy patients and their needs. Turkish Archives of Pediatrics, 56(4), 366–373. https://doi.org/10.5152/TurkArchPediatr.2021.21045
Faravelli, I., Nizzardo, M., Comi, G., & Corti, S. (2015). Spinal muscular atrophy—Recent therapeutic advances for an old challenge. Nature Reviews Neurology, 11(6), 351–359. https://doi.org/10.1038/nrneurol.2015.77
Farrar, M. A., & Kiernan, M. C. (2015). The genetics of spinal muscular atrophy: Progress and challenges. Neurotherapeutics, 12(2), 290–302. https://doi.org/10.1007/s13311-014-0314-x
Finkel, R. S., McDermott, M. P., Kaufmann, P., Darras, B. T., Chung, W. K., Sproule, D. M., Kang, P. B., Foley, A. R., Yang, M. L., Martens, W. B., Oskoui, M., Glanzman, A. M., Flickinger, J., Montes, J., Dunaway, S., O'Hagen, J., Quigley, J., Riley, S., Benton, M., & De Vivo, D. C. (2014). Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology, 83(9), 810–817. https://doi.org/10.1212/WNL.0000000000000741
Finkel, R. S., Mercuri, E., Darras, B. T., et al. (2017). Nusinersen versus sham control in infantile-onset spinal muscular atrophy. New England Journal of Medicine, 377(18), 1723–1732. https://doi.org/10.1056/NEJMoa1702752
Fishbein, M., & Ajzen, I. (2010). Predicting and changing behavior: The reasoned action approach. Psychology Press.
Guralnick, M. J. (2011). Why early intervention works: A systems perspective. Infants & Young Children, 24(1), 6–28. https://doi.org/10.1097/IYC.0b013e3182002cfe
Haché, M., Swoboda, K. J., Sethna, N., Farrow-Gillespie, A., Khandji, A., Xia, S., & Bishop, K. M. (2016). Intrathecal injections in children with spinal muscular atrophy: Nusinersen clinical trial experience. Journal of Child Neurology, 31(7), 899–906. https://doi.org/10.1177/0883073815610433
Hjorth, E., Kreicbergs, U., Sejersen, T., & Lövgren, M. (2018). Parents' advice to healthcare professionals working with children who have spinal muscular atrophy. European Journal of Paediatric Neurology, 22(1), 128–134. https://doi.org/10.1016/j.ejpn.2017.09.007
Hjorth, E., Kreicbergs, U., Sejersen, T., Werlauff, U., Rahbek, J., & Lövgren, M. (2022). Parents' advice to other parents of children with spinal muscular atrophy: Two nationwide follow-ups. *Journal of Child Health Careヌ, 26(3), 407–421. https://doi.org/10.1177/13674935211014731
Johnson, B., & Christensen, L. (2015). Educational research: Quantitative, qualitative, and mixed approaches. Sage.
Kauffman, J. M., & Landrum, T. J. (2015). Characteristics of children and youth with emotional and behavioral disorders (S. Kaner, Ed. & Trans.). Nobel Yayınevi. (Original work published 2013).
Kayadjanian, N., Burghes, A., Finkel, R. S., et al. (2013). SMA-EUROPE workshop report: Opportunities and challenges in developing clinical trials for spinal muscular atrophy in Europe. Orphanet Journal of Rare Diseases, 8, Article 44. https://doi.org/10.1186/1750-1172-8-44
Kılınç, F., & Aral, N. (2015). An early intervention model: Parent-child interaction program [Erken müdahale için bir model: Anne-çocuk etkileşim programı]. Hacettepe University Faculty of Health Sciences Journal, 1(2), 63–76.
Kolb, S. J., & Kissel, J. T. (2015). Spinal muscular atrophy. Neurologic Clinics, 33(4), 831–846. https://doi.org/10.1016/j.ncl.2015.07.004
Kotoman, H. (2009). Parents' self-efficacy scale regarding storybook reading [Ana-babaların hikâye kitabı okumaya ilişkin özyeterlilik ölçeği]. Turkish Journal of Educational Sciences, 7(4), 767–780.
Laufersweiler-Plass, C., Rudnik-Schöneborn, S., Zerres, K., Backes, M., Lehmkuhl, G., & von Gontard, A. (2003). Behavioural problems in children and adolescents with spinal muscular atrophy and their siblings. Developmental Medicine & Child Neurology, 45(1), 44–49. https://doi.org/10.1111/j.1469-8749.2003.tb00858.x
Lenzoni, S., Semenza, C., Calligaro, D., et al. (2022). Cognitive profiles and clinical factors in type III spinal muscular atrophy: A preliminary study. Neuromuscular Disorders, 32(8), 672–677. https://doi.org/10.1016/j.nmd.2022.05.011
Lunn, M. R., & Wang, C. H. (2008). Spinal muscular atrophy. The Lancet, 371(9630), 2120–2133. https://doi.org/10.1016/S0140-6736(08)60921-6
Markowitz, J. A., Singh, P., & Darras, B. T. (2012). Spinal muscular atrophy: A clinical and research update. Pediatric Neurology, 46(1), 1–12. https://doi.org/10.1016/j.pediatrneurol.2011.09.001
Masson, R., Brusa, C., Scoto, M., & Baranello, G. (2021). Brain, cognition, and language development in spinal muscular atrophy type 1: A scoping review. Developmental Medicine & Child Neurology, 63(5), 527–536. https://doi.org/10.1111/dmcn.14798
Mendell, J. R., Al-Zaidy, S., Shell, R., et al. (2017). Single-dose gene-replacement therapy for spinal muscular atrophy. New England Journal of Medicine, 377(17), 1713–1722. https://doi.org/10.1056/NEJMoa1706198
Mercuri, E., Finkel, R. S., Muntoni, F., Wirth, B., Montes, J., Main, M., et al. (2018). Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscular Disorders, 28(2), 103–115. https://doi.org/10.1016/j.nmd.2017.11.005
Mercuri, E., Pera, M. C., Scoto, M., Finkel, R., & Muntoni, F. (2020). Spinal muscular atrophy - insights and challenges in the treatment era. Nature Reviews Neurology, 16(12), 706–715. https://doi.org/10.1038/s41582-020-00413-4
Milligan, J. N., Blasco-Pérez, L., Costa-Roger, M., Codina-Solà, M., & Tizzano, E. F. (2022). Recommendations for interpreting and reporting silent carrier and disease-modifying variants in SMA testing workflows. Genes, 13(9), Article 1657. https://doi.org/10.3390/genes13091657
Ministry of National Education [Milli Eğitim Bakanlığı]. (2013). Early childhood education program [Okul öncesi eğitim programı].
Ministry of Health [T.C. Sağlık Bakanlığı]. (2021). Pre-marital spinal muscular atrophy (SMA) carrier screening program [Evlilik öncesi spinal müsküler atrofi (SMA) taşıyıcı tarama programı]. Ministry of Health General Directorate of Public Health. https://hsgm.saglik.gov.tr/tr/cocukergen-tp-liste/evlilikoncesi-spinal-muskuler-atrofi-sma-tasiyici-tarama-programi.html
Ministry of Health General Directorate of Public Health [T.C. Sağlık Bakanlığı Halk Sağlığı Genel Müdürlüğü]. (2021). Pre-marital SMA carrier screening program [Evlilik öncesi SMA taşıyıcı tarama programı]. https://hsgm.saglik.gov.tr/tr/
Ministry of Health General Directorate of Public Health [T.C. Sağlık Bakanlığı Halk Sağlığı Genel Müdürlüğü]. (2022). Inclusion of spinal muscular atrophy (SMA) disease within the scope of the national newborn screening program [Ulusal yenidoğan tarama programı kapsamına spinal müsküler atrofi (SMA) hastalığının eklenmesi]. https://hsgm.saglik.gov.tr/tr/
Ministry of Health General Directorate of Health Services [T.C. Sağlık Bakanlığı Sağlık Hizmetleri Genel Müdürlüğü]. (2022). Spinal muscular atrophy (SMA) clinical protocol (Publication No: 1243) [Spinal müsküler atrofi (SMA) klinik protokolü]. https://shgm.saglik.gov.tr/Eklenti/43458/0/smakp08062022pdf.pdf
Moultrie, R. R., Kish-Doto, J., Peay, H., & Lewis, M. A. (2016). A review on spinal muscular atrophy: Awareness, knowledge, and attitudes. Journal of Genetic Counseling, 25(5), 892–900. https://doi.org/10.1007/s10897-016-9955-8
Munsat, T. L., & Davies, K. E. (1992). International SMA consortium meeting. (26-28 June 1992, Bonn, Germany). Neuromuscular Disorders, 2(5-6), 423–428. https://doi.org/10.1016/0960-8966(92)90018-p
Ngawa, M., Farra, F., Marinescu, A., & Servais, L. (2023). Longitudinal developmental profile of newborns and toddlers treated for spinal muscular atrophy. Therapeutic Advances in Neurological Disorders, 16, 1–13. https://doi.org/10.1177/17562864231154335
Nishio, H., Niba, E. T. E., Saito, T., Okamoto, K., Takeshima, Y., & Awano, H. (2023). Spinal muscular atrophy: The past, present, and future of diagnosis and treatment. International Journal of Molecular Sciences, 24(15), Article 11939. https://doi.org/10.3390/ijms241511939
Official Gazette [Resmî Gazete]. (2025, April 26). Communiqué on amending the Social Security Institution health implementation communiqué (No: 32883) [Sosyal Güvenlik Kurumu Sağlık Uygulama Tebliğinde Değişiklik Yapılmasına Dair Tebliğ]. https://www.resmigazete.gov.tr/eskiler/2025/04/20250426-4.pdf
Panda, P., Ramachandran, A., Verma, P., & Sharawat, I. (2022). Behavioral problems in infants and young children with spinal muscular atrophy and their siblings: A cross-sectional study. European Journal of Paediatric Neurology, 42, 47-52. https://doi.org/10.1016/j.ejpn.2022.12.006
Pane, M., Palermo, C., Messina, S., et al. (2018a). An observational study of functional abilities in infants, children, and adults with type 1 SMA. Neurology, 91(8), e696–e703. https://doi.org/10.1212/WNL.0000000000006051
Pane, M., Palermo, C., Messina, S., et al. (2018b). Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function. Neuromuscular Disorders, 28(7), 582–585. https://doi.org/10.1016/j.nmd.2018.03.010
Papina, Y., Zavadenko, N., Melnik, E., Artemyeva, S., Berdalina, I., & Vlodavets, D. (2025). Assessment of social emotional, cognitive and communicative development and adaptive behavior in children with spinal muscular atrophy 5q. Neuromuscular Diseases, 15(1), 39–52. https://doi.org/10.17650/2222-8721-2025-15-1-39-52
Pechmann, A., Langer, T., & Kirschner, J. (2022). Parents' perspectives on diagnosis and decision-making regarding ventilator support in children with SMA type 1. Neuropediatrics, 53(2), 122–128. https://doi.org/10.1055/s-0042-1743439
Pennington, L., & McConachie, H. (2001). Communication with children with severe motor impairments: The effects of speech intelligibility. International Journal of Language & Communication Disorders, 36(3), 371–394. https://doi.org/10.1080/13682820110055271
Phan, H. C., Taylor, J. L., Hannon, H., & Howell, R. (2015). Newborn screening for spinal muscular atrophy: Anticipating an imminent need. Seminars in Perinatology, 39(3), 217–229. https://doi.org/10.1053/j.semperi.2015.03.008
Piattelli-Palmarini, M. (1994). Ever since language and learning: Afterthoughts on the Piaget–Chomsky debate. Cognition, 50(3), 315–346. https://doi.org/10.1016/0010-0277(94)90034-6
Pinto, W. B. V. de R., Souza, P. V. S. de, Badia, B. M. L., Farias, I. B., Albuquerque Filho, J. M. V. de, Gonçalves, E. A., Machado, R. I. L., & Oliveira, A. S. B. (2021). Adult-onset non-5q proximal spinal muscular atrophy: A comprehensive review. Arquivos de Neuro-Psiquiatria, 79(10), 912–923. https://doi.org/10.1590/0004-282X-ANP-2021-0071
Polido, G. J., Barbosa, A. F., Morimoto, C. H., Caromano, F. A., Favero, F. M., & Zanoteli, E. (2017). Matching pairs difficulty in children with spinal muscular atrophy type I. Neuromuscular Disorders, 27(5), 419–427. https://doi.org/10.1016/j.nmd.2017.01.018
Polido, G. J., de Miranda, M. M. V., Carvas, N., Mendonça, R. H., Caromano, F. A., Reed, U. C., Zanoteli, E., & Voos, M. C. (2019). Cognitive performance of children with spinal muscular atrophy: A systematic review. *Dementia & Neuropsychologiaヌ, 13(4), 436–443. https://doi.org/10.1590/1980-57642018dn13-040011
Prior, T. W. (2007). Spinal muscular atrophy diagnostics. Journal of Child Neurology, 22(8), 952–956. https://doi.org/10.1177/0883073807305668
Prior, T. W., & Russman, B. S. (2000, updated 2013). Spinal muscular atrophy. In R. A. Pagon, M. P. Adam, H. H. Ardinger, S. E. Wallace, A. Amemiya, L. J. H. Bean, et al. (Eds.), GeneReviews. University of Washington.
Qian, Y., McGraw, S., Henne, J., Jarecki, J., Hobby, K., & Yeh, W. S. (2015). Understanding the experiences and needs of individuals with spinal muscular atrophy and their parents: A qualitative study. BMC Neurology, 15, Article 217. https://doi.org/10.1186/s12883-015-0473-3
Ratni, H., Ebeling, M., Baird, J., et al. (2018). Discovery of risdiplam, a selective survival of motor neuron-2 (SMN2) gene splicing modifier for the treatment of spinal muscular atrophy (SMA). Journal of Medicinal Chemistry, 61(15), 6501–6517. https://doi.org/10.1021/acs.jmedchem.8b00743
Ribero, M., I, P., Batson, P., Mitchell, P., Gorni, M., Gusset, N., Oskoui, M., Mdcm, L., & Sutherland, P. (2023). Systematic literature review of the natural history of spinal muscular atrophy. Neurology, 101(23), e2103–e2113. https://doi.org/10.1212/WNL.0000000000207878
Rivière, J., & Lécuyer, R. (2002). Spatial cognition in young children with spinal muscular atrophy. Developmental Neuropsychology, 21(2), 273–283. https://doi.org/10.1207/S15326942DN2102_5
Rivière, J., Lécuyer, R., & Hickmann, M. (2009). Early locomotion and the development of spatial language: Evidence from young children with motor impairments. European Journal of Developmental Psychology, 6(5), 548–566. https://doi.org/10.1080/17405620701499572
Salort-Campana, E., & Quijano-Roy, S. (2020). Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease). Archives de Pédiatrie, 27(7S), 7S23–7S28. https://doi.org/10.1016/S0929-693X(20)30273-6
Saracaloğlu, A., & Demiryürek, A. T. (2021). New approaches and approved drugs in spinal muscular atrophy (SMA) treatment [Spinal Musküler Atrofi (SMA) tedavisinde yeni yaklaşımlar ve onaylı ilaçlar]. Journal of Reports in Pharmaceutical Sciences, 10(2), 145–158.
Sieratzki, J. S., & Woll, B. (2002a). Cognitive function in children with spinal muscular atrophy. Neuromuscular Disorders, 12(7-8), 693–694. https://doi.org/10.1016/S0960-8966(02)00039-4
Sieratzki, J. S., & Woll, B. (2002b). Toddling into language: Precocious language development in motor-impaired children with spinal muscular atrophy. Journal of Child Psychology and Psychiatry, 43(6), 893–902. https://doi.org/10.1111/1469-7610.00096
Stuart, A., Canario, C., & Cruz, O. (2021). An evaluation of the quality of parent-child interactions in vulnerable families that are followed by child protective services: A latent profile analysis. Children, 8(10), Article 906. https://doi.org/10.3390/children8100906
Tosi, M., Cumbo, F., Catteruccia, M., Carlesi, A., Mizzoni, I., De Luca, G., Cherchi, C., Cutrera, R., Bertini, E., & D’Amico, A. (2023). Neurocognitive profile of a cohort of SMA type 1 pediatric patients and emotional aspects, resilience and coping strategies of their caregivers. European Journal of Paediatric Neurology, 43, 36-43. https://doi.org/10.1016/j.ejpn.2023.02.004
von Gontard, A., Rudnik-Schöneborn, S., & Zerres, K. (2012). Stress and coping in parents of children and adolescents with spinal muscular atrophy. Klinische Pädiatrie, 224(4), 247–251. https://doi.org/10.1055/s-0032-1304576
von Gontard, A., Zerres, K., Backes, M., Laufersweiler-Plass, C., Wendland, C., Melchers, P., & Rudnik-Schöneborn, S. (2002). Intelligence and cognitive function in children and adolescents with spinal muscular atrophy. Neuromuscular Disorders, 12(2), 130–136. https://doi.org/10.1016/s0960-8966(01)00250-9
Voos, M. C. (2019). Motor, visual, and cognitive performance of children with spinal muscular atrophy (Vol. 3) [Desempenho motor, visual e cognitivo de crianças com atrofia muscular espinhal]. Ed. Artmed.
Wang, C. H., Finkel, R. S., Bertini, E. S., Schroth, M., Simonds, A., Wong, B., & Trela, A. (2007). Consensus statement for standard of care in spinal muscular atrophy. Journal of Child Neurology, 22(8), 1027–1049. https://doi.org/10.1177/0883073807305788
Werner, C. D., Linting, M., Vermeer, H. J., & van Ijzendoorn, M. (2016). Do intervention programs in child care promote the quality of caregiver-child interactions? A meta-analysis of randomized controlled trials. Prevention Science, 17(2), 259–273. https://doi.org/10.1007/s11121-015-0612-4
Wirth, B., Karakaya, M., Kye, M. J., & Mendoza-Ferreira, N. (2020). Twenty-five years of spinal muscular atrophy research: From phenotype to genotype to therapy, and what comes next. Annual Review of Genomics and Human Genetics, 21, 231–261. https://doi.org/10.1146/annurev-genom-102319-103602
Yao, M., Ma, Y., Qian, R., Xia, Y., Yuan, C., Bai, G., & Mao, S. (2021). Quality of life of children with spinal muscular atrophy and their caregivers from the perspective of caregivers: A Chinese cross-sectional study. Orphanet Journal of Rare Diseases, 16(1), Article 7. https://doi.org/10.1186/s13023-020-01652-w
Yücel, Z., & Yüksel, E. B. (2023). Spinal muscular atrophy: Current developments in diagnosis, screening, and treatment [Spinal Musküler Atrofi: Tanı, Tarama ve Tedavide Güncel Gelişmeler]. Journal of Clinical Medicine, 14(3), 201–215.
Zappa, G., LoMauro, A., Baranello, G., Cavallo, E., Corti, P., Mastella, C., & Costantino, M. A. (2021). Intellectual abilities, language comprehension, speech, and motor function in children with spinal muscular atrophy type 1. Journal of Neurodevelopmental Disorders, 13(1), Article 9. https://doi.org/10.1186/s11689-020-09351-y
Zimmerman, F. J., Christakis, D. A., & Meltzoff, A. N. (2007). Associations between media viewing and language development in children under age 2 years. The Journal of Pediatrics, 151(4), 364–368. https://doi.org/10.1016/j.jpeds.2007.04.071

Details

Primary Language

English

Subjects

Child Development Education, Community Child Health

Journal Section

Review

Authors

Ayşıl Seda Togur ^*
Türkiye

Aysel Köksal Akyol
0000-0002-1500-2960
Türkiye

Publication Date

June 24, 2026

Submission Date

April 27, 2026

Acceptance Date

June 2, 2026

Published in Issue

Year 2026 Volume: 2 Number: 2

IZ

https://izlik.org/JA29JA89GF

Cite

RIS / Bibtex

APA

Togur, A. S., & Köksal Akyol, A. (2026). Developmental Assessment and Support of Infants with Spinal Muscular Atrophy (SMA): A Literature Review. Journal of Child Development and Education, 2(2), 115-128. https://izlik.org/JA29JA89GF

AMA

1.Togur AS, Köksal Akyol A. Developmental Assessment and Support of Infants with Spinal Muscular Atrophy (SMA): A Literature Review. JOCDE. 2026;2(2):115-128. https://izlik.org/JA29JA89GF

Chicago

Togur, Ayşıl Seda, and Aysel Köksal Akyol. 2026. “Developmental Assessment and Support of Infants With Spinal Muscular Atrophy (SMA): A Literature Review”. Journal of Child Development and Education 2 (2): 115-28. https://izlik.org/JA29JA89GF.

EndNote

Togur AS, Köksal Akyol A (June 1, 2026) Developmental Assessment and Support of Infants with Spinal Muscular Atrophy (SMA): A Literature Review. Journal of Child Development and Education 2 2 115–128.

IEEE

[1]A. S. Togur and A. Köksal Akyol, “Developmental Assessment and Support of Infants with Spinal Muscular Atrophy (SMA): A Literature Review”, JOCDE, vol. 2, no. 2, pp. 115–128, June 2026, [Online]. Available: https://izlik.org/JA29JA89GF

ISNAD

Togur, Ayşıl Seda - Köksal Akyol, Aysel. “Developmental Assessment and Support of Infants With Spinal Muscular Atrophy (SMA): A Literature Review”. Journal of Child Development and Education 2/2 (June 1, 2026): 115-128. https://izlik.org/JA29JA89GF.

JAMA

1.Togur AS, Köksal Akyol A. Developmental Assessment and Support of Infants with Spinal Muscular Atrophy (SMA): A Literature Review. JOCDE. 2026;2:115–128.

MLA

Togur, Ayşıl Seda, and Aysel Köksal Akyol. “Developmental Assessment and Support of Infants With Spinal Muscular Atrophy (SMA): A Literature Review”. Journal of Child Development and Education, vol. 2, no. 2, June 2026, pp. 115-28, https://izlik.org/JA29JA89GF.

Vancouver

1.Ayşıl Seda Togur, Aysel Köksal Akyol. Developmental Assessment and Support of Infants with Spinal Muscular Atrophy (SMA): A Literature Review. JOCDE [Internet]. 2026 Jun. 1;2(2):115-28. Available from: https://izlik.org/JA29JA89GF